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Bardet-Biedl syndrome 15(BBS15)

MedGen UID:
461477
•Concept ID:
C3150127
•
Disease or Syndrome
Synonym: BBS15
 
Gene (location): WDPCP (2p15)
 
Monarch Initiative: MONDO:0014443
OMIM®: 615992

Definition

BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Professional guidelines

PubMed

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K, AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N, Yang J, Abdulwahab F, Hashem M, Chivukula RR, Alkuraya FS
Hum Genet 2020 Oct;139(10):1273-1283. Epub 2020 May 4 doi: 10.1007/s00439-020-02170-2. PMID: 32367404
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E
Hum Mutat 2011 Jun;32(6):610-9. Epub 2011 Mar 22 doi: 10.1002/humu.21480. PMID: 21344540

Recent clinical studies

Etiology

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. PMID: 35791150Free PMC Article
Kidney failure in Bardet-Biedl syndrome.
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free PMC Article
Bardet Biedl syndrome in South Africa: A single founder mutation.
Fieggen K, Milligan C, Henderson B, Esterhuizen AI
S Afr Med J 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. PMID: 27245532

Diagnosis

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S, Zhang Q, Ding Y, Wang L, Li Z, Hu F, Yao RE, Yu T, Chang G, Wang X
Orphanet J Rare Dis 2024 Apr 8;19(1):149. doi: 10.1186/s13023-024-03150-9. PMID: 38584252Free PMC Article
The Pathophysiology of Inherited Renal Cystic Diseases.
Satariano M, Ghose S, Raina R
Genes (Basel) 2024 Jan 11;15(1) doi: 10.3390/genes15010091. PMID: 38254980Free PMC Article
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H, Huang X, Xing Y, Shen Y
Mol Genet Genomic Med 2020 Mar;8(3):e1131. Epub 2020 Jan 20 doi: 10.1002/mgg3.1131. PMID: 31960602Free PMC Article

Therapy

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome.
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Pediatric laparoscopic sleeve gastrectomy in Turkey: Short-term results.
Ates U, Ergun E, Gollu G, Sozduyar S, Can OS, Yagmurlu A
Pediatr Int 2018 May;60(5):461-466. doi: 10.1111/ped.13545. PMID: 29500869
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N
Am J Med Genet 2000 Oct 23;94(5):433-7. doi: 10.1002/1096-8628(20001023)94:5<433::aid-ajmg17>3.0.co;2-x. PMID: 11050632

Prognosis

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L
Exp Biol Med (Maywood) 2023 May;248(10):858-865. Epub 2023 May 19 doi: 10.1177/15353702231164933. PMID: 37208928Free PMC Article
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Álvarez-Satta M, Castro-Sánchez S, Pousada G, Valverde D
J Cell Mol Med 2017 Oct;21(10):2268-2275. Epub 2017 May 13 doi: 10.1111/jcmm.13147. PMID: 28502102Free PMC Article
Genetics of obesity and the prediction of risk for health.
Walley AJ, Blakemore AI, Froguel P
Hum Mol Genet 2006 Oct 15;15 Spec No 2:R124-30. doi: 10.1093/hmg/ddl215. PMID: 16987875
Clinical and genetic epidemiology of inherited renal disease in Newfoundland.
Parfrey PS, Davidson WS, Green JS
Kidney Int 2002 Jun;61(6):1925-34. doi: 10.1046/j.1523-1755.2002.00305.x. PMID: 12028433
Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG
Nat Genet 2000 Sep;26(1):15-6. doi: 10.1038/79116. PMID: 10973238

Clinical prediction guides

Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. PMID: 35791150Free PMC Article
Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome.
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Bardet Biedl syndrome in South Africa: A single founder mutation.
Fieggen K, Milligan C, Henderson B, Esterhuizen AI
S Afr Med J 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. PMID: 27245532
Hyperphagia among patients with Bardet-Biedl syndrome.
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article
Visual acuity and retinal function in patients with Bardet-Biedl syndrome.
Berezovsky A, Rocha DM, Sacai PY, Watanabe SS, Cavascan NN, Salomão SR
Clinics (Sao Paulo) 2012;67(2):145-9. doi: 10.6061/clinics/2012(02)09. PMID: 22358239Free PMC Article

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